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P81408

- F189B_HUMAN

UniProt

P81408 - F189B_HUMAN

Protein

Protein FAM189B

Gene

FAM189B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 108 (01 Oct 2014)
      Sequence version 2 (20 Apr 2010)
      Previous versions | rss
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    Functioni

    GO - Molecular functioni

    1. protein binding Source: IntAct
    2. WW domain binding Source: UniProtKB

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein FAM189B
    Alternative name(s):
    Protein COTE1
    Gene namesi
    Name:FAM189B
    Synonyms:C1orf2, COTE1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:1233. FAM189B.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25608.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 668668Protein FAM189BPRO_0000079261Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi160 – 1601N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiP81408.
    PRIDEiP81408.

    PTM databases

    PhosphoSiteiP81408.

    Expressioni

    Tissue specificityi

    Widely expressed.

    Gene expression databases

    ArrayExpressiP81408.
    BgeeiP81408.
    CleanExiHS_C1orf2.
    GenevestigatoriP81408.

    Organism-specific databases

    HPAiHPA006659.

    Interactioni

    Subunit structurei

    May interact with WWOX.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    WWOXQ9NZC72EBI-6366314,EBI-4320739

    Protein-protein interaction databases

    BioGridi115938. 2 interactions.
    IntActiP81408. 1 interaction.
    STRINGi9606.ENSP00000354958.

    Structurei

    3D structure databases

    ProteinModelPortaliP81408.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei34 – 5421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei67 – 8721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei91 – 11121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei174 – 19421HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi243 – 2497Poly-Pro
    Compositional biasi634 – 6385Poly-Ser

    Sequence similaritiesi

    Belongs to the FAM189 family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG26718.
    HOGENOMiHOG000049214.
    HOVERGENiHBG051081.
    InParanoidiP81408.
    OMAiSWKRPFT.
    OrthoDBiEOG7X0VGX.
    PhylomeDBiP81408.
    TreeFamiTF332736.

    Family and domain databases

    InterProiIPR007237. CD20-like.
    [Graphical view]
    PfamiPF04103. CD20. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform A (identifier: P81408-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MMPSPSDSSR SLTSRPSTRG LTHLRLHRPW LQALLTLGLV QVLLGILVVT    50
    FSMVASSVTT TESIKRSCPS WAGFSLAFSG VVGIVSWKRP FTLVISFFSL 100
    LSVLCVMLSM AGSVLSCKNA QLARDFQQCS LEGKVCVCCP SVPLLRPCPE 150
    SGQELKVAPN STCDEARGAL KNLLFSVCGL TICAAIICTL SAIVCCIQIF 200
    SLDLVHTLAP ERSVSGPLGP LGCTSPPPAP LLHTMLDLEE FVPPVPPPPY 250
    YPPEYTCSSE TDAQSITYNG SMDSPVPLYP TDCPPSYEAV MGLRGDSQAT 300
    LFDPQLHDGS CICERVASIV DVSMDSGSLV LSAIGDLPGG SSPSEDSCLL 350
    ELQGSVRSVD YVLFRSIQRS RAGYCLSLDC GLRGPFEESP LPRRPPRAAR 400
    SYSCSAPEAP PPLGAPTAAR SCHRLEGWPP WVGPCFPELR RRVPRGGGRP 450
    AAAPPTRAPT RRFSDSSGSL TPPGHRPPHP ASPPPLLLPR SHSDPGITTS 500
    SDTADFRDLY TKVLEEEAAS VSSADTGLCS EACLFRLARC PSPKLLRARS 550
    AEKRRPVPTF QKVPLPSGPA PAHSLGDLKG SWPGRGLVTR FLQISRKAPD 600
    PSGTGAHGHK QVPRSLWGRP GRESLHLRSC GDLSSSSSLR RLLSGRRLER 650
    GTRPHSLSLN GGSRETGL 668
    Length:668
    Mass (Da):71,355
    Last modified:April 20, 2010 - v2
    Checksum:iE22EED90923826BD
    GO
    Isoform B (identifier: P81408-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         76-171: Missing.

    Show »
    Length:572
    Mass (Da):61,135
    Checksum:i103AAACFCBD20DF3
    GO
    Isoform 2 (identifier: P81408-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         76-94: Missing.
         207-207: T → TQ

    Show »
    Length:650
    Mass (Da):69,425
    Checksum:iC852AD556C0848D0
    GO
    Isoform 3 (identifier: P81408-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         207-207: T → TQ

    Show »
    Length:669
    Mass (Da):71,483
    Checksum:iE30360AC9A4571E6
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti358 – 3581S → F in a breast cancer sample; somatic mutation. 1 Publication
    VAR_035684
    Natural varianti549 – 5491R → H.
    Corresponds to variant rs2072648 [ dbSNP | Ensembl ].
    VAR_037876
    Natural varianti646 – 6461R → H.
    Corresponds to variant rs2072648 [ dbSNP | Ensembl ].
    VAR_056842

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei76 – 17196Missing in isoform B. 1 PublicationVSP_038926Add
    BLAST
    Alternative sequencei76 – 9419Missing in isoform 2. 1 PublicationVSP_046728Add
    BLAST
    Alternative sequencei207 – 2071T → TQ in isoform 2 and isoform 3. 1 PublicationVSP_046729

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF023268 Genomic DNA. Translation: AAC51822.1.
    AL713999 Genomic DNA. Translation: CAI95092.1.
    AL713999 Genomic DNA. Translation: CAI95094.1.
    CH471121 Genomic DNA. Translation: EAW53094.1.
    CH471121 Genomic DNA. Translation: EAW53097.1.
    CH471121 Genomic DNA. Translation: EAW53098.1.
    BC040136 mRNA. Translation: AAH40136.2.
    BC006493 mRNA. Translation: AAH06493.1.
    BC007444 mRNA. Translation: AAH07444.1.
    BC010471 mRNA. Translation: AAH10471.1.
    BC033707 mRNA. No translation available.
    CCDSiCCDS1103.1. [P81408-1]
    CCDS1104.1. [P81408-2]
    CCDS58035.1. [P81408-3]
    PIRiT08827.
    RefSeqiNP_001254537.1. NM_001267608.1. [P81408-3]
    NP_006580.2. NM_006589.2. [P81408-1]
    NP_937995.1. NM_198264.1. [P81408-2]
    XP_005244902.1. XM_005244845.1. [P81408-4]
    XP_005276795.1. XM_005276738.1. [P81408-4]
    UniGeneiHs.348308.

    Genome annotation databases

    EnsembliENST00000350210; ENSP00000307128; ENSG00000160767. [P81408-2]
    ENST00000361361; ENSP00000354958; ENSG00000160767. [P81408-1]
    ENST00000368368; ENSP00000357352; ENSG00000160767. [P81408-3]
    ENST00000572488; ENSP00000458501; ENSG00000262666. [P81408-3]
    ENST00000574749; ENSP00000460960; ENSG00000262666. [P81408-2]
    ENST00000575430; ENSP00000461152; ENSG00000262666. [P81408-1]
    GeneIDi10712.
    KEGGihsa:10712.
    UCSCiuc001fjm.3. human. [P81408-1]
    uc001fjn.3. human. [P81408-2]
    uc001fjo.3. human.

    Polymorphism databases

    DMDMi294862432.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF023268 Genomic DNA. Translation: AAC51822.1 .
    AL713999 Genomic DNA. Translation: CAI95092.1 .
    AL713999 Genomic DNA. Translation: CAI95094.1 .
    CH471121 Genomic DNA. Translation: EAW53094.1 .
    CH471121 Genomic DNA. Translation: EAW53097.1 .
    CH471121 Genomic DNA. Translation: EAW53098.1 .
    BC040136 mRNA. Translation: AAH40136.2 .
    BC006493 mRNA. Translation: AAH06493.1 .
    BC007444 mRNA. Translation: AAH07444.1 .
    BC010471 mRNA. Translation: AAH10471.1 .
    BC033707 mRNA. No translation available.
    CCDSi CCDS1103.1. [P81408-1 ]
    CCDS1104.1. [P81408-2 ]
    CCDS58035.1. [P81408-3 ]
    PIRi T08827.
    RefSeqi NP_001254537.1. NM_001267608.1. [P81408-3 ]
    NP_006580.2. NM_006589.2. [P81408-1 ]
    NP_937995.1. NM_198264.1. [P81408-2 ]
    XP_005244902.1. XM_005244845.1. [P81408-4 ]
    XP_005276795.1. XM_005276738.1. [P81408-4 ]
    UniGenei Hs.348308.

    3D structure databases

    ProteinModelPortali P81408.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 115938. 2 interactions.
    IntActi P81408. 1 interaction.
    STRINGi 9606.ENSP00000354958.

    PTM databases

    PhosphoSitei P81408.

    Polymorphism databases

    DMDMi 294862432.

    Proteomic databases

    PaxDbi P81408.
    PRIDEi P81408.

    Protocols and materials databases

    DNASUi 10712.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000350210 ; ENSP00000307128 ; ENSG00000160767 . [P81408-2 ]
    ENST00000361361 ; ENSP00000354958 ; ENSG00000160767 . [P81408-1 ]
    ENST00000368368 ; ENSP00000357352 ; ENSG00000160767 . [P81408-3 ]
    ENST00000572488 ; ENSP00000458501 ; ENSG00000262666 . [P81408-3 ]
    ENST00000574749 ; ENSP00000460960 ; ENSG00000262666 . [P81408-2 ]
    ENST00000575430 ; ENSP00000461152 ; ENSG00000262666 . [P81408-1 ]
    GeneIDi 10712.
    KEGGi hsa:10712.
    UCSCi uc001fjm.3. human. [P81408-1 ]
    uc001fjn.3. human. [P81408-2 ]
    uc001fjo.3. human.

    Organism-specific databases

    CTDi 10712.
    GeneCardsi GC01M155216.
    H-InvDB HIX0199898.
    HGNCi HGNC:1233. FAM189B.
    HPAi HPA006659.
    neXtProti NX_P81408.
    PharmGKBi PA25608.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG26718.
    HOGENOMi HOG000049214.
    HOVERGENi HBG051081.
    InParanoidi P81408.
    OMAi SWKRPFT.
    OrthoDBi EOG7X0VGX.
    PhylomeDBi P81408.
    TreeFami TF332736.

    Miscellaneous databases

    ChiTaRSi FAM189B. human.
    GenomeRNAii 10712.
    NextBioi 40665.
    PROi P81408.

    Gene expression databases

    ArrayExpressi P81408.
    Bgeei P81408.
    CleanExi HS_C1orf2.
    Genevestigatori P81408.

    Family and domain databases

    InterProi IPR007237. CD20-like.
    [Graphical view ]
    Pfami PF04103. CD20. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease."
      Winfield S.L., Tayebi N., Martin B.M., Ginns E.I., Sidransky E.
      Genome Res. 7:1020-1026(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3).
      Tissue: Hippocampus.
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A; B AND 2).
      Tissue: Brain, Lymph and Pancreas.
    5. "WWOX binds the specific proline-rich ligand PPXY: identification of candidate interacting proteins."
      Ludes-Meyers J.H., Kil H., Bednarek A.K., Drake J., Bedford M.T., Aldaz C.M.
      Oncogene 23:5049-5055(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH WWOX.
    6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    7. Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-358.

    Entry informationi

    Entry nameiF189B_HUMAN
    AccessioniPrimary (citable) accession number: P81408
    Secondary accession number(s): B1AVS5, Q8IXL3, Q9BR66
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 30, 2000
    Last sequence update: April 20, 2010
    Last modified: October 1, 2014
    This is version 108 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3